Ophthalmic geneticsAdultHumansCodonNonsenseElectroretinography
A novel TSPAN12 mutation causing retinitis pigmentosa-like appearance of familial exudative vitreoretinopathy.
Joseph R Abraham, Alison Zhao, Meghan J Debenedictis, Elias I Traboulsi, Jonathan E Sears
Published: 202610.1080/13816810.2025.2560624
Abstract
PURPOSE: Familial exudative vitreoretinopathy (FEVR) is a category of vitreoretinal diseases with a broad phenotypic spectrum ranging from subclinical peripheral vascular changes to total retinal detachments. We report the clinical and molecular gene…
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